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Naxos Disease and Related Cardio-Cutaneous Syndromes
Alexandros Protonotarios1, Angeliki Asimaki2, Cristina Basso3
1Centre for Heart Muscle Disease, UCL Institute of Cardiovascular Science, London, UK.
JACC. Advances
|January 29, 2025
Summary
Naxos disease, a rare genetic disorder, combines heart issues, woolly hair, and skin problems. Research highlights its genetic basis and the need for comprehensive patient care and global data sharing.
Area of Science:
- Cardiology
- Genetics
- Dermatology
Background:
- Naxos disease is a rare autosomal recessive disorder.
- It is characterized by arrhythmogenic right ventricular cardiomyopathy, woolly hair, and palmoplantar keratoderma.
- The first identified causative variant was in the gene encoding plakoglobin.
Purpose of the Study:
- To summarize current knowledge on Naxos disease and related cardiocutaneous syndromes.
- To initiate an international endeavor to collect and study all global cases.
- To improve understanding, treatment, and patient care through shared data and research.
Main Methods:
- Review of current knowledge on Naxos disease.
- Initiation of an international case collection and study.
- Analysis of genetic variants, clinical features, and treatment outcomes.
Main Results:
- Naxos disease involves fibro-fatty myocardial replacement and immunohistological abnormalities.
- Childhood cutaneous signs precede cardiac features.
- Similar phenotypes are linked to desmoplakin and desmocollin2 gene variants.
Conclusions:
- Naxos disease requires holistic care, risk management, and lifestyle adjustments.
- Early diagnosis through familial and genetic evaluation, ECG, and cardiac imaging is crucial.
- International collaboration is essential for advancing research and patient care.
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